Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845682G>T , CM000672.2:g.99845682G>T | GRCh38 |
| NC_000010.10:g.101605439G>T , CM000672.1:g.101605439G>T | GRCh37 |
| NC_000010.9:g.101595429G>T | NCBI36 |
| NG_011798.1:g.67977G>T | |
| NG_011798.2:g.68085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4046G>T MANE Select | ENSP00000497274.1:p.Arg1349Ile | |
| ENST00000649459.1:n.394G>T | ||
| ENST00000370449.8:c.4046G>T | ENSP00000359478.4:p.Arg1349Ile | |
| NM_000392.4:c.4046G>T | NP_000383.1:p.Arg1349Ile | |
| XM_006717630.2:c.3350G>T | XP_006717693.1:p.Arg1117Ile | |
| XR_945604.1:n.4177-1G>T | ||
| XR_945605.1:n.4110G>T | ||
| NM_000392.5:c.4046G>T MANE Select | NP_000383.2:p.Arg1349Ile | |
| XM_006717630.3:c.3350G>T | XP_006717693.1:p.Arg1117Ile | |
| XR_945604.3:n.4231-1G>T | ||
| XR_945605.3:n.4162G>T |